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European Journal of Medical Genetics
|
August 21, 2020
A novel homozygous KY variant causing a complex neurological disorder
Beenish Arif, Arisha Rasheed, Kishore R Kumar, et al.
Cerebellum (London, England)
|
May 22, 2019
Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2
Sinem Tunc, Marija Dulovic-Mahlow, Hauke Baumann, et al.
Journal of Neurology
|
October 20, 2023
Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B
Max Borsche, Mirja Thomsen, David J Szmulewicz, et al.
Parkinsonism & Related Disorders
|
April 14, 2018
A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members
Marija Dulovic, Eva Schäffer, Frank Leypoldt, et al.
Scientific Reports
|
February 4, 2017
Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia
Karen Grütz, Philip Seibler, Anne Weissbach, et al.
Journal of Neural Transmission (Vienna, Austria : 1996)
|
February 3, 2026
Long-term efficiency of pallidal DBS and the role of Levodopa treatment in DYT-GNAL and 18p deletion syndrome associated dystonia: an observational study and review of literature
Johanna Reimer, Friederike Schumann, Katja Lohmann, et al.
Parkinsonism & Related Disorders
|
February 17, 2018
Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders
Humera Manzoor, Norbert Brüggemann, Hafiz Muhammad Jafar Hussain, et al.
Parkinsonism & Related Disorders
|
January 23, 2025
Functional movement disorders in dopa-responsive dystonia
Feline Hamami, Jannik Prasuhn, Leon-Claas van Well, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 19, 2007
Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene
Michael Orth, Ana Djarmati, Tobias Bäumer, et al.
European Journal of Human Genetics : EJHG
|
May 31, 2024
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
German Demidov, Steven Laurie, Annalaura Torella, et al.
Page
of 27
Search research articles
Search
Showing results (81-90 of 267) with videos related to
Sort By:
Page
of 27
European Journal of Medical Genetics
|
August 21, 2020
A novel homozygous KY variant causing a complex neurological disorder
Beenish Arif, Arisha Rasheed, Kishore R Kumar, et al.
Cerebellum (London, England)
|
May 22, 2019
Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2
Sinem Tunc, Marija Dulovic-Mahlow, Hauke Baumann, et al.
Journal of Neurology
|
October 20, 2023
Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B
Max Borsche, Mirja Thomsen, David J Szmulewicz, et al.
Parkinsonism & Related Disorders
|
April 14, 2018
A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members
Marija Dulovic, Eva Schäffer, Frank Leypoldt, et al.
Scientific Reports
|
February 4, 2017
Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia
Karen Grütz, Philip Seibler, Anne Weissbach, et al.
Journal of Neural Transmission (Vienna, Austria : 1996)
|
February 3, 2026
Long-term efficiency of pallidal DBS and the role of Levodopa treatment in DYT-GNAL and 18p deletion syndrome associated dystonia: an observational study and review of literature
Johanna Reimer, Friederike Schumann, Katja Lohmann, et al.
Parkinsonism & Related Disorders
|
February 17, 2018
Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders
Humera Manzoor, Norbert Brüggemann, Hafiz Muhammad Jafar Hussain, et al.
Parkinsonism & Related Disorders
|
January 23, 2025
Functional movement disorders in dopa-responsive dystonia
Feline Hamami, Jannik Prasuhn, Leon-Claas van Well, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
August 19, 2007
Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene
Michael Orth, Ana Djarmati, Tobias Bäumer, et al.
European Journal of Human Genetics : EJHG
|
May 31, 2024
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
German Demidov, Steven Laurie, Annalaura Torella, et al.
Page
of 27